MCID: KLB005
MIFTS: 24

Kleeblattschaedel

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Kleeblattschaedel

MalaCards integrated aliases for Kleeblattschaedel:

Name: Kleeblattschaedel 56
Isolated Cloverleaf Skull Syndrome 52 58
Kleeblattschaedel Syndrome 52 71
Cloverleaf Skull 56 29
Kleeblattschaedel Deformity Syndrome 52
Cloverleaf Skull Syndrome 52
Kleeblattschadel 56

Characteristics:

Orphanet epidemiological data:

58
isolated cloverleaf skull syndrome
Inheritance: Not applicable; Age of onset: Neonatal; Age of death: early childhood;

OMIM:

56
Inheritance:
autosomal dominant
all cases have been sporadic


HPO:

31
kleeblattschaedel:
Inheritance autosomal dominant inheritance sporadic


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 148800
ICD10 via Orphanet 33 Q75.0
Orphanet 58 ORPHA2343
MedGen 41 C1860050
UMLS 71 C0432126

Summaries for Kleeblattschaedel

OMIM : 56 Cloverleaf skull, or Kleeblattschaedel, consists of a trilobular skull with craniosynostosis. The condition shows pathogenetic variability and etiologic heterogeneity. The cause of isolated cloverleaf skull is unknown (Cohen, 2009). Cohen (1975) pointed out that Kleeblattschaedel is a component of many syndromes, e.g., it is found in some cases of Crouzon syndrome (123500), Pfeiffer syndrome (101600), and Carpenter syndrome (201000). Cohen (2009) listed 12 monogenic disorders with cloverleaf skull as a feature, including type II thanatophoric dysplasia (187601), which accounts for 40% of all cloverleaf skull syndromes. Cohen (2009) published photographs of cloverleaf skull in various syndromes. (148800)

MalaCards based summary : Kleeblattschaedel, also known as isolated cloverleaf skull syndrome, is related to micromelic bone dysplasia with cloverleaf skull and multiple congenital anomalies syndrome with cloverleaf skull. An important gene associated with Kleeblattschaedel is ERF (ETS2 Repressor Factor). Affiliated tissues include bone, and related phenotypes are cognitive impairment and low-set, posteriorly rotated ears

Related Diseases for Kleeblattschaedel

Diseases related to Kleeblattschaedel via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 63)
# Related Disease Score Top Affiliating Genes
1 micromelic bone dysplasia with cloverleaf skull 12.7
2 multiple congenital anomalies syndrome with cloverleaf skull 12.7
3 thanatophoric dysplasia, type ii 12.2
4 benallegue lacete syndrome 12.1
5 pfeiffer syndrome 12.0
6 beare-stevenson cutis gyrata syndrome 11.6
7 kozlowski warren fisher syndrome 11.5
8 osteoglophonic dysplasia 11.3
9 carpenter syndrome 1 11.3
10 gracile bone dysplasia 11.3
11 craniosynostosis 2 11.3
12 warman mulliken hayward syndrome 11.3
13 dwarfism 10.6
14 synostosis 10.6
15 exophthalmos 10.5
16 craniosynostosis 10.5
17 apert syndrome 10.4
18 intracranial hypertension 10.4
19 crouzon syndrome 10.3
20 hypertelorism 10.3
21 chromosome 2q35 duplication syndrome 10.3
22 microphthalmia 10.2
23 papilledema 10.2
24 heart septal defect 10.2
25 dysostosis 10.2
26 chiari malformation 10.2
27 chromosomal triplication 10.2
28 thanatophoric dysplasia, type i 10.2
29 hydrocephalus 10.2
30 communicating hydrocephalus 10.2
31 chiari malformation type ii 10.2
32 polyhydramnios 10.2
33 achondroplasia 10.1
34 saethre-chotzen syndrome 10.1
35 campomelic dysplasia 10.1
36 hypochondroplasia 10.1
37 keratitis, hereditary 10.1
38 metatropic dysplasia 10.1
39 shprintzen-goldberg craniosynostosis syndrome 10.1
40 neural tube defects 10.1
41 hydrocephalus, congenital, 1 10.1
42 hydrocephalus due to congenital stenosis of aqueduct of sylvius 10.1
43 polydactyly 10.1
44 breath-holding spells 10.1
45 choanal atresia, posterior 10.1
46 brachydactyly 10.1
47 asphyxiating thoracic dystrophy 10.1
48 sleep apnea 10.1
49 achondrogenesis 10.1
50 microcephaly 10.1

Graphical network of the top 20 diseases related to Kleeblattschaedel:



Diseases related to Kleeblattschaedel

Symptoms & Phenotypes for Kleeblattschaedel

Human phenotypes related to Kleeblattschaedel:

58 31 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cognitive impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0100543
2 low-set, posteriorly rotated ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000368
3 proptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000520
4 malar flattening 58 31 hallmark (90%) Very frequent (99-80%) HP:0000272
5 high forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000348
6 convex nasal ridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000444
7 midface retrusion 58 31 hallmark (90%) Very frequent (99-80%) HP:0011800
8 skeletal dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0002652
9 abnormal form of the vertebral bodies 58 31 frequent (33%) Frequent (79-30%) HP:0003312
10 craniosynostosis 58 31 frequent (33%) Frequent (79-30%) HP:0001363
11 finger syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0006101
12 limitation of joint mobility 58 31 frequent (33%) Frequent (79-30%) HP:0001376
13 hydrocephalus 31 HP:0000238
14 cloverleaf skull 31 HP:0002676
15 elbow ankylosis 31 HP:0003070
16 recurrent corneal erosions 31 HP:0000495

Symptoms via clinical synopsis from OMIM:

56
Neuro:
hydrocephalus

Limbs:
elbow ankylosis

Skull:
craniosynostosis
trilobular skull
premature coronal and lambdoidal suture closure

Eyes:
exophthalmos
corneal ulcerations

Clinical features from OMIM:

148800

Drugs & Therapeutics for Kleeblattschaedel

Search Clinical Trials , NIH Clinical Center for Kleeblattschaedel

Genetic Tests for Kleeblattschaedel

Genetic tests related to Kleeblattschaedel:

# Genetic test Affiliating Genes
1 Cloverleaf Skull 29

Anatomical Context for Kleeblattschaedel

MalaCards organs/tissues related to Kleeblattschaedel:

40
Bone

Publications for Kleeblattschaedel

Articles related to Kleeblattschaedel:

# Title Authors PMID Year
1
Cloverleaf skulls: etiologic heterogeneity and pathogenetic variability. 56
19293681 2009
2
Dysmorphic choroid plexuses and hydrocephalus associated with increased nuchal translucency: early ultrasound markers of de novo thanatophoric dysplasia type II with cloverleaf skull (Kleeblattschaedel). 61
24517215 2014

Variations for Kleeblattschaedel

Expression for Kleeblattschaedel

Search GEO for disease gene expression data for Kleeblattschaedel.

Pathways for Kleeblattschaedel

GO Terms for Kleeblattschaedel

Sources for Kleeblattschaedel

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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